Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2009 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 314 0.454 0.808 0.89 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		P20585 mutS homolog 3 Nucleic acid binding 245 0.474 0.769 7.4E-31 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2120
Gene Symbol: ETV6
ETV6 		P41212 ETS variant transcription factor 6 Transcription factor 241 0.477 0.731 0.97 0.010 None 1.000 1 0 2011 2011
Entrez Id: 9519
Gene Symbol: TBPL1
TBPL1 		P62380 TATA-box binding protein like 1 Transcription factor 198 0.506 0.846 0.38 0.040 None 1.000 4 0 2012 2015
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1 		P17643 tyrosinase related protein 1 Enzyme 200 0.507 0.846 6.6E-25 0.040 None 1.000 4 0 2012 2015
Entrez Id: 7178
Gene Symbol: TPT1
TPT1 		P13693 tumor protein, translationally-controlled 1 Cellular structure 143 0.528 0.731 0.81 0.010 None 1.000 1 0 2003 2003
Entrez Id: 8851
Gene Symbol: CDK5R1
CDK5R1 		Q15078 cyclin dependent kinase 5 regulatory subunit 1 Enzyme modulator 153 0.529 0.808 0.91 0.010 None 1.000 1 0 2003 2003
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN 		P63162 Q9Y675 small nuclear ribonucleoprotein polypeptide N Nucleic acid binding 183 0.538 0.731 4.3E-02 0.010 None 1.000 1 0 2007 2007
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		Q8NEM0 microcephalin 1 Nucleic acid binding 141 0.540 0.846 7.8E-30 0.010 None 1.000 1 0 2009 2009
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6237
Gene Symbol: RRAS
RRAS 		P10301 RAS related Enzyme modulator 149 0.543 0.808 4.7E-03 0.010 None 1.000 1 0 2003 2003
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 139 0.546 0.615 0.95 0.310 None 1.000 1 0 2013 2013
Entrez Id: 9173
Gene Symbol: IL1RL1
IL1RL1 		Q01638 interleukin 1 receptor like 1 Receptor 117 0.547 0.731 1.4E-12 0.010 None 1.000 1 0 2007 2007
Entrez Id: 388015
Gene Symbol: RTL1
RTL1 		A6NKG5 retrotransposon Gag like 1 119 0.554 0.808 5.6E-03 0.010 None 1.000 1 0 1996 1996
Entrez Id: 1761
Gene Symbol: DMRT1
DMRT1 		Q9Y5R6 doublesex and mab-3 related transcription factor 1 101 0.559 0.654 0.74 0.010 None 1.000 1 0 2011 2011
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 10085
Gene Symbol: EDIL3
EDIL3 		O43854 EGF like repeats and discoidin domains 3 Enzyme 104 0.564 0.769 1.5E-04 0.010 None 1.000 1 0 2001 2001
Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12 		immunoglobulin heavy variable 1-12 (pseudogene) 89 0.569 0.654 0.010 None 1.000 1 0 2011 2011
Entrez Id: 23089
Gene Symbol: PEG10
PEG10 		Q86TG7 paternally expressed 10 75 0.597 0.615 0.87 0.010 None 1.000 1 0 1996 1996
Entrez Id: 81620
Gene Symbol: CDT1
CDT1 		Q9H211 chromatin licensing and DNA replication factor 1 91 0.597 0.731 2.6E-10 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6419
Gene Symbol: SETMAR
SETMAR 		Q53H47 SET domain and mariner transposase fusion gene Epigenetic regulator 61 0.617 0.692 1.0E-04 0.010 None 1.000 1 0 1996 1996
Entrez Id: 2558
Gene Symbol: GABRA5
GABRA5 		P31644 gamma-aminobutyric acid type A receptor subunit alpha5 Ion channel 73 0.621 0.385 0.91 0.300 None 1.000 1 0 2013 2013